R13G (p.Arg13Gly) variant of ACAT1 (P24752)
R13G (p.Arg13Gly) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- TOPMed rs1211329032
- gnomAD rs1211329032
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.34
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available